Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3 14
C0005129 Bernard-Soulier Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 13
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 6
C0007137 Squamous cell carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 3 7
C0024776 Maple Syrup Urine Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 3 14
C0027708 Nephroblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 3 3
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 3 24
C0033847 Pseudoxanthoma Elasticum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 39
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 3 8
C0152018 Esophageal carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3 3
C0235974 Pancreatic carcinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 3
C0238339 Hereditary pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 3 16
C0265269 Lacrimoauriculodentodigital syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 3 5
C0266313 Allanson Pantzar McLeod syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 3 4
C0268374 Adult junctional epidermolysis bullosa (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 6
C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3 19
C0272350 Dysfibrinogenemia, Congenital disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 7
C0279680 Transitional cell carcinoma of bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 3 0
C0346647 Malignant neoplasm of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3 1
C0410179 Ullrich congenital muscular dystrophy 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 11
C0546264 Congenital Fiber Type Disproportion disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 3 13
C0546966 Monilethrix disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 3 9
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 3 2
C1834674 BETHLEM MYOPATHY 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 3 21
C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 11